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Attributes	Values
type	Concept
sameAs	http://id.nlm.nih.gov/mesh/D000592
notation	C16.320.565.100 C18.452.648.100
alternative label	Amino Acidopathies, Congenital Aminoacidopathies héréditaires Congenital Amino Acidopathies Erreurs innées du métabolisme des acides aminés Amino Acid Metabolism Disorders, Inborn Amino Acid Metabolism, Inborn Error Amino Acidopathies, Inborn Amino Acidopathy, Congenital Inborn Amino Acidopathies Inborn Amino Acidopathy Inborn Errors, Amino Acid Metabolism Inherited Errors of Amino Acid Metabolism Maladies héréditaires du métabolisme des acides aminés Amino Acid Metabolism, Inborn Errors Amino Acid Metabolism, Inherited Disorders Amino Acidopathy, Inborn Congenital Amino Acidopathy
preferred label	Aminoacidopathies congénitales
is in scheme	http://id.nlm.nih.gov/mesh
note	Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life
is primary topic of	http://www.idref.fr/040660281
is Subject of	http://www.sudoc.fr/009215638/id La leucinose intermittente, à propos d'un cas http://www.sudoc.fr/074700340/id http://www.sudoc.fr/189066253/id Dépistage néonatal du déficit primaire en carnitine, état de l’art et perspectives http://www.sudoc.fr/015963063/id Aminoacidopathies, immunoglobinopathies, neuro-genetics and neuro-ophthalmology http://www.sudoc.fr/27584479X/id http://www.sudoc.fr/275844838/id

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